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Linkage disequilibrium (LD) mapping of disease genes is complicated by population- and chromosome-region-specific factors. We have analysed demographic factors by contrasting intermarker LD results obtained in a large cosmopolitan population (UK), a large genetic isolate (Sardinia) and a subisolate (village of Gavoi) for two regions of the X chromosome. A dramatic increase of LD was found in the subisolate. Demographic history of populations therefore influences LD. Chromosome-region-specific effects, namely the pattern and frequency of homologous recombination, were next delineated by the analysis of chromosome 6p21, including the HLA region. Patterns of global LD in this region were very similar in the UK and Sardinian populations despite their entirely distinct demographies, and correlate well with the pattern of recombinations. Nevertheless, haplotypes extend across recombination hot spots indicative of selection of certain haplotypes. Subisolate aside, chromosome-region-specific differences in LD patterns appear to be more important than the differences in intermarker LD between distinct populations.

Original publication

DOI

10.1093/hmg/9.20.2947

Type

Journal article

Journal

Hum Mol Genet

Publication Date

12/12/2000

Volume

9

Pages

2947 - 2957

Keywords

Chromosomes, Human, Pair 6, Demography, HLA Antigens, Humans, Linkage Disequilibrium, Male, Microsatellite Repeats, Recombination, Genetic, Selection, Genetic, X Chromosome